Limited Scleroderma disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

GARD: ¹⁹ Limited cutaneous systemic sclerosis is a subtype of systemic sclerosis characterized by the association of Raynaud's phenomenon and skin fibrosis on the hands, face, feet and forearms. The exact cause of Limited cutaneous systemic sclerosis is unknown, but likely originates from an autoimmune reaction which leads to overproduction of collagen. In some cases, the condition is associated with exposure to certain chemicals.

MalaCards based summary: Limited Scleroderma, also known as limited cutaneous systemic sclerosis, is related to diffuse cutaneous systemic sclerosis and telangiectasis. An important gene associated with Limited Scleroderma is CCR6 (C-C Motif Chemokine Receptor 6), and among its related pathways/superpathways are Ebola virus infection in host and Genes associated with the development of rheumatoid arthritis. The drugs Ropivacaine and Anesthetics, Local have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and endothelial, and related phenotypes are autoimmunity and hypopigmented skin patches

Orphanet ⁵⁸ Limited cutaneous systemic sclerosis: Limited cutaneous systemic sclerosis (lcSSc) is a subtype of systemic sclerosis (SSc; see this term) characterized by the association of Raynaud's phenomenon with skin fibrosis limited to the hands, face, feet and forearms.

Limited systemic sclerosis: Limited systemic sclerosis (lSSc) (or SSc sine scleroderma) is a subset of systemic sclerosis (SSc; see this term) characterized by organ involvement in the absence of fibrosis of the skin.

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Related Diseases for Limited Scleroderma

Diseases related to Limited Scleroderma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 364)

#	Related Disease	Score	Top Affiliating Genes
1	diffuse cutaneous systemic sclerosis	31.3	IRF5 HLA-DRB1 CCR6 CCN2 CAV1
2	telangiectasis	31.1	TRIM21 TOP1 SNRNP70 FBL EXOSC10 CENPS
3	scleroderma, familial progressive	31.1	TOP1 FBL EDN1 CENPB CCN2
4	raynaud disease	31.0	TRIM21 SNRNP70 EDN1 CENPB
5	systemic scleroderma	30.9	TSSK1B TRIM21 TOP1 SNRNP70 IRF5 HLA-DRB1
6	lupus erythematosus	30.7	TRIM21 SNRNP70 IRF5 CCR6 BANK1
7	pulmonary fibrosis	30.7	EDNRA EDN1 CCN2 CAV1
8	childhood type dermatomyositis	30.7	TRIM21 SNRNP70 HLA-DRB1 EXOSC10 CCR6
9	crest syndrome	30.6	TOP1 SNRNP70 FBL EXOSC10 CENPS CENPC
10	primary biliary cholangitis	30.6	TRIM21 IRF5 HLA-DRB1 CENPB CCR6
11	dilated cardiomyopathy	30.5	HLA-DRB1 EDNRA EDN1 CCR6 CCN2 CAV1
12	sjogren syndrome	30.5	TRIM21 CENPB CCR6
13	autoimmune disease	30.4	TRIM21 IRF5 HLA-DRB1 FBL CENPB CCR6
14	interstitial lung disease 2	30.4	EDN1 CCR6 CCN2 CAV1
15	pulmonary venoocclusive disease	30.4	EDNRA EDN1 CAV1
16	intraocular pressure quantitative trait locus	30.4	EDNRA EDN1 CCN2
17	mononeuritis multiplex	30.3	TRIM21 HLA-DRB1
18	temporal arteritis	30.3	TRIM21 HLA-DRB1 CCR6
19	nonspecific interstitial pneumonia	30.3	TRIM21 TOP1 EXOSC10 CCR6
20	collagen disease	30.3	TRIM21 SNRNP70 EXOSC10 CCR6
21	gastric antral vascular ectasia	30.3	TOP1 EXOSC10
22	localized scleroderma	30.2	TSSK1B TOP1 SNRNP70 EXOSC10 CCN2
23	connective tissue disease	30.2	TRIM21 TOP1 SNRNP70 HLA-DRB1 FBL EDNRA
24	portal hypertension	30.1	EDNRA EDN1 CCR6
25	diffuse scleroderma	30.1	TSSK1B TRIM21 TOP1 SNRNP70 FBL EXOSC10
26	systemic lupus erythematosus	30.0	TRIM21 SNRNP70 KIAA0319L IRF5 HLA-DRB1 EDN1
27	dyskinesia of esophagus	29.9	TRIM21 TOP1 SNRNP70 FBL EXOSC10 CENPS
28	primary localized cutaneous nodular amyloidosis	11.0
29	libman-sacks endocarditis	10.4	TRIM21 SNRNP70
30	adult dermatomyositis	10.4	TRIM21 HLA-DRB1
31	esophageal leukoplakia	10.4	TOP1 CENPB CENPA
32	mikulicz disease	10.4	TRIM21 CCR6
33	transverse myelitis	10.4	TRIM21 HLA-DRB1 CCR6
34	cutaneous lupus erythematosus	10.4	TRIM21 IRF5 CCR6
35	inflammatory bowel disease 14	10.4	IRF5 CCN2
36	perinephritis	10.4	EDNRA EDN1
37	mononeuritis of upper limb and mononeuritis multiplex	10.4	TRIM21 HLA-DRB1
38	splenic tuberculosis	10.4	SNRNP70 FBL EXOSC10
39	autoimmune disease of cardiovascular system	10.4	TRIM21 HLA-DRB1 CCR6
40	hypersensitivity reaction type iv disease	10.4	TRIM21 HLA-DRB1 CCR6
41	facial hemiatrophy	10.4	SNRNP70 EXOSC10 BANK1
42	antisynthetase syndrome	10.4	TRIM21 SNRNP70 EXOSC10
43	conjunctival vascular disease	10.4	TRIM21 TOP1 EDN1
44	femoral cancer	10.4	EDNRA EDN1
45	malignant renovascular hypertension	10.4	EDNRA EDN1
46	autoimmune disease of exocrine system	10.4	TRIM21 SNRNP70 IRF5 CCR6
47	hepatopulmonary syndrome	10.4	EDNRA EDN1 CAV1
48	mandibulofacial dysostosis with alopecia	10.4	EDNRA EDN1
49	malignant secondary hypertension	10.4	TRIM21 EDNRA EDN1
50	glaucoma, primary open angle	10.4	EDN1 CCN2 CAV1

Graphical network of the top 20 diseases related to Limited Scleroderma:

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Symptoms & Phenotypes for Limited Scleroderma

Human phenotypes related to Limited Scleroderma:

⁵⁸ ³⁰ (show all 16)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	autoimmunity ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0002960
2	hypopigmented skin patches ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0001053
3	narrow foramen obturatorium ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0100958
4	nausea and vomiting ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0002017
5	dysphagia ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0002015
6	gastroesophageal reflux ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0002020
7	skin ulcer ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0200042
8	mucosal telangiectasiae ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0100579
9	telangiectasia of the skin ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0100585
10	pulmonary arterial hypertension ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002092
11	pulmonary fibrosis ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002206
12	joint contracture of the hand ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0009473
13	foot joint contracture ³⁰	Occasional (7.5%)		HP:0008366
14	abnormality of skin pigmentation ⁵⁸		Very frequent (99-80%)
15	abnormality of the skin ⁵⁸		Very frequent (99-80%)
16	contractures involving the joints of the feet ⁵⁸		Occasional (29-5%)

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Drugs & Therapeutics for Limited Scleroderma

Drugs for Limited Scleroderma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 28)

#

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

1

Ropivacaine

Approved

Phase 4

84057-95-4

71273 175805

2

Anesthetics, Local

Phase 4

3

Anesthetics

Phase 4

4

Sodium citrate

Approved, Investigational

Phase 3

68-04-2

23431961

5

Sildenafil

Approved, Investigational

Phase 3

139755-83-2, 171599-83-0

5212 135398744

6

Bupivacaine

Approved, Investigational

Phase 2, Phase 3

2180-92-9, 38396-39-3

2474

7

Citric acid

Approved, Nutraceutical, Vet_approved

Phase 3

77-92-9

311

8

Phosphodiesterase Inhibitors

Phase 3

9

Phosphodiesterase 5 Inhibitors

Phase 3

10

Vasodilator Agents

Phase 3

11

Calcium, Dietary

Phase 3

12

Anticoagulants

Phase 3

13

Citrate

Phase 3

14

Chelating Agents

Phase 3

15

Calcium

Nutraceutical

Phase 3

7440-70-2

271

16

Mycophenolic acid

Approved, Investigational

Phase 2

24280-93-1

446541

17

Ifetroban

Investigational

Phase 2

143443-90-7

3037233

18

Anti-Bacterial Agents

Phase 2

19

Anti-Infective Agents

Phase 2

20

Antitubercular Agents

Phase 2

21

Antibiotics, Antitubercular

Phase 2

22

Platelet Aggregation Inhibitors

Phase 2

23

Nitric Oxide

Approved

10102-43-9

145068

24

Racepinephrine

Approved, Vet_approved

51-43-4, 329-65-7

838 5816

25

Analgesics

26

Epinephryl borate

27

Pharmaceutical Solutions

28

Analgesics, Opioid

Interventional clinical trials:

(show all 13)

#	Name	Status	NCT ID	Phase	Drugs
1	Intérêt du TFP (Transversalis Fascia Plane) Bloc échoguidé Pour l'analgésie du prélèvement Osseux de crête Iliaque	Completed	NCT02398474	Phase 4	TFP block ropivacaine;ropivacaine infiltration of the iliac crest bone
2	Effect of Sildenafil on the Microcirculatory Blood Flow and on the Endothelial Progenitor Cells in Patients With Systemic Sclerosis: a Randomized, Double-blind, Placebo-controlled Clinical Trial	Completed	NCT01347008	Phase 3	Sildenafil citrate;Placebo (Sugar pill)
3	Chemical Sympathectomy Following Peripheral Nerve Block With Liposomal Bupivacaine	Terminated	NCT02374320	Phase 2, Phase 3	liposomal bupivacaine
4	A Randomised Prospective Open Label Pilot Trial Comparing Mycophenolate Mofetil (MMF) With no Immunosuppression in Adults With Limited Cutaneous Systemic Sclerosis	Recruiting	NCT04927390	Phase 2	Mycophenolate Mofetil 500mg
5	A Phase 2 Multicenter, Randomized, Double-blind, Placebo-controlled Study to Assess the Safety and Efficacy of Ifetroban in Patients With Diffuse Cutaneous Systemic Sclerosis (SSc) or SSc-associated Pulmonary Arterial Hypertension (SSc-PAH)	Recruiting	NCT02682511	Phase 2	Oral Ifetroban;Oral Placebo
6	Localized Effects of Photobiomodulation and Exogenous Nitric Oxide on CREST Patients Calcinosis Cutis & Raynaud Phenomenon	Unknown status	NCT03972566		INOMAX
7	Comparative Clinical Study of the Prevention of the Reduction of Alveolar Crest by Alveoli Filling With an Injectable Calcium Phosphate After Extraction of Mandibular Molar or Pre Molar	Unknown status	NCT00740311
8	A Non-Interventional Pilot Study Assessing Whether Lysyl Oxidase-like 2 (LOXL2) is Present in Subjects With Scleroderma	Completed	NCT01881529
9	A Prospective Pilot Study on the Performance of The Plexur P™ Bone Void Filler	Completed	NCT00837473
10	The Analgesic Efficacy of the Transversalis Fascia Plane Block in Iliac Crest Bone Graft Harvesting	Completed	NCT01133730		Active treatment;Placebo Arm
11	Metabolomic Analysis of Systemic Sclerosis	Recruiting	NCT02298777
12	A Multicenter, Prospective, Longitudinal Study to Evaluate Gastrointestinal Function and Clinical and Molecular Biomarkers in Subjects With Early and Late Diffuse Cutaneous Systemic Sclerosis, Limited Cutaneous Systemic Sclerosis, and Healthy Volunteers	Withdrawn	NCT02531009
13	Investigating Hyaluronidase in Treating Oral Microstomia in Patients With Sclerosing Skin Disease	Withdrawn	NCT04656704	Early Phase 1	hyaluronidase injected intradermally

Search NIH Clinical Center for Limited Scleroderma

Cochrane evidence based reviews: scleroderma, limited

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Genetic Tests for Limited Scleroderma

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Anatomical Context for Limited Scleroderma

Organs/tissues related to Limited Scleroderma:

MalaCards : Skin, Bone, Endothelial, Lung, Bone Marrow, Liver, Breast

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Publications for Limited Scleroderma

Articles related to Limited Scleroderma:

(show top 50) (show all 1089)

#	Title	Authors	PMID	Year
1	Transesophageal endoscopic ultrasound-guided coil and cyanoacrylate treatment of challenging esophageal varices bleeding associated with CREST syndrome ulcerative esophagitis. ⁶²	Rivory J...Valette PJ	35523221	2022
2	Anti-topoisomerase-positive limited systemic sclerosis has a propensity for interstitial lung disease but is linked to favourable prognosis. ⁶²	Desai RP...Assassi S	35552377	2022
3	A case of limited cutaneous systemic sclerosis with non-Fahr-type calcification in the brain and a review of the literature. ⁶²	Ukai K	35959840	2022
4	Phenotype of limited cutaneous systemic sclerosis patients with positive anti-topoisomerase I antibodies: data from the EUSTAR cohort. ⁶²	Zanatta E...EUSTAR collaborators	35348643	2022
5	Bilateral retinal vasculitis in association with systemic sclerosis sine scleroderma. ⁶²	Hermoso-Fernandez FM...Callejas-Rubio JL	35718547	2022
6	Serum microRNAs in Systemic Sclerosis, Associations with Digital Vasculopathy and Lung Involvement. ⁶²	Wajda A...Paradowska-Gorycka A	36142646	2022
7	Domains and outcome measures for the assessment of limited cutaneous systemic sclerosis: an international collaborative scoping review. ⁶²	Lescoat A...Khanna D	35094049	2022
8	[18F]Sodium Fluoride PET has the potential to identify active formation of calcinosis cutis in limited cutaneous systemic sclerosis. ⁶²	Atzeni IM...Mulder DJ	35687922	2022
9	Rheumatologic Associations of Microscopic Colitis: A Narrative Review. ⁶²	Le C...Rosenstein ED	35993773	2022
10	Localized scleroderma: actual insights and new biomarkers. ⁶²	Snarskaya ES...Vasileva KD	34347884	2022
11	A Case of Chronic Myelomonocytic Leukemia Unmasked After Receiving J&J COVID-19 Vaccine. ⁶²	Veeraballi S...Shaaban H	35865440	2022
12	Anti-RNA polymerase III antibodies in systemic sclerosis: Multicentric study from Argentina. ⁶²	Gargiulo MLA...Gomez G	34366290	2022
13	The Relationship between Smoking, Raynaud's Phenomenon, Digital Ulcers, and Skin Thickness in the Waikato Systemic Sclerosis Cohort. ⁶²	Silva C...White DHN	36465326	2022
14	Systemic Sclerosis Sine Scleroderma After Silicone Breast Implants. ⁶²	de Carvalho JF...Shoenfeld Y	33337809	2022
15	Spectrum of comorbid autoimmune diseases in patients with chondrodermatitis nodularis helicis: a 17-year retrospective study of 215 patients in Asturias, northern Spain ⁶²	Vazquez-Lopez F...Galache Osuna C	36065543	2022
16	Systemic sclerosis sine scleroderma in children. ⁶²	Zulian F...Martini G	34605913	2022
17	Antinuclear antibody pattern and autoantibody profiling of systemic sclerosis patients in a tertiary referral center in North India. ⁶²	Machhua S...Minz RW	35319814	2022
18	Autoantibodies versus Skin Fibrosis Extent in Systemic Sclerosis: A Case-Control Study of Inverted Phenotypes. ⁶²	Tieu A...Mouthon L	35626223	2022
19	Artifactual hypoglycemia in a patient with systemic sclerosis. ⁶²	Mertens J...Haddad M	33074796	2022
20	Friction Syndromes of the Knee. ⁶²	Pharis H...Wissman R	35189665	2022
21	The Efficacy of a Home-Based, Self-Administered Hand Exercise Program for Patients With Systemic Sclerosis: A Randomized Controlled, Evaluator-Blind, Clinical Trial. ⁶²	Gokcen N...Erken E	34030163	2022
22	Immunotactoid glomerulopathy - an enigmatic case in the setting of nodal marginal zone lymphoma and systemic sclerosis sine scleroderma. ⁶²	Mohamed MW...Dandi B	35291980	2022
23	Chronic Dyspnea with Raynaud's Phenomenon and Elevated ANA: A Diagnosis of Systemic Sclerosis Sine Scleroderma. ⁶²	Chong WH...Beegle S	35276077	2022
24	Vaso reactivity test using inhaled nitric oxide for pulmonary arterial hypertension accompanied by severe interstitial lung disease attributed to systemic sclerosis: A case report. ⁶²	Yamaguchi T...Yoshiyama M	35261697	2022
25	Symptom experience of limited cutaneous systemic sclerosis from the Patients' perspective: A qualitative study✰,✰✰,★,★★. ⁶²	Lescoat A...Khanna D	34785028	2022
26	Immunosuppression use in early systemic sclerosis may be increasing over time. ⁶²	Park R...Pope JE	35386940	2022
27	Clinical features and prognostic factors of systemic sclerosis in Guangxi, China: Retrospective, single-center study of long-term survival in 470 patients. ⁶²	Chen J...Lei L	34889515	2022
28	Calcinosis in Limited Systemic Sclerosis. ⁶²	Costa E...Sousa-Neves J	35090614	2022
29	CREST Syndrome in Systemic Sclerosis Patients - Is Dystrophic Calcinosis a Key Element to a Positive Diagnosis? ⁶²	Bobeica C...Tatu AL	35706527	2022
30	Cardiac calcium score in systemic sclerosis. ⁶²	Afifi N...Hassan HGEMA	34495426	2022
31	Anti-tRNA synthetase syndrome interstitial lung disease: A single center experience. ⁶²	Wilfong EM...Dudenhofer RB	33994288	2022
32	[Characteristics of patients with connective tissue disease-associated pulmonary arterial hypertension treated with prostanoids: A multicenter retrospective study]. ⁶²	Genin V...Agard C	34462153	2021
33	Clinical and serological characteristics of systemic sclerosis: Experience of a tertiary care center in Pakistan. ⁶²	Asif S...Haroon M	35382372	2021
34	Galectin-1 and Galectin-3 Expression in Lesional Skin of Patients With Systemic Sclerosis-Association With Disease Severity. ⁶²	Mora GF...Zubieta MR	32501939	2021
35	MicroRNA-411-3p inhibits bleomycin-induced skin fibrosis by regulating transforming growth factor-β/Smad ubiquitin regulatory factor-2 signalling. ⁶²	Zhang Z...Yang J	34783198	2021
36	Occlusive retinal vasculitis associated with systemic sclerosis and antiphospholipid antibodies. ⁶²	Ng CC...Cunningham ET	34568641	2021
37	Scleroderma Renal Crisis Complicating Male-to-Female Transgender Hormonal Therapy in a Patient With Long-Standing and Stable Limited Cutaneous Systemic Sclerosis. ⁶²	Arneson LC...Varga J	32956156	2021
38	Calcinosis cutis in limited cutaneous systemic sclerosis. ⁶²	Mondal S...Ghosh A	33711165	2021
39	CREST syndrome. ⁶²	Kumar A...Agarwal A	32883767	2021
40	COVID-19 and exacerbation of dermatological diseases: A review of the available literature. ⁶²	Aram K...Rajabi F	34453380	2021
41	Limited cutaneous systemic sclerosis: Total rehabilitation with fixed prosthesis on dental implants. ⁶²	Garces Villala MA...Zorrilla Albert C	35387213	2021
42	Osteopetrosis in a Patient of Systemic Sclerosis Sine Scleroderma: A Rare Association. ⁶²	Pati SK...Bodhey NK	35136520	2021
43	Acquired haemophilia A in a patient with limited cutaneous systemic sclerosis. ⁶²	Glas HK...Goekoop RJ	33878170	2021
44	Therapeutic Approaches to Systemic Sclerosis: Recent Approvals and Future Candidate Therapies. ⁶²	Lescoat A...Khanna D	34468946	2021
45	Comprehensive analysis of the major histocompatibility complex in systemic sclerosis identifies differential HLA associations by clinical and serological subtypes. ⁶²	Acosta-Herrera M...Martin J	34096881	2021
46	Oral Health Experiences of the Limited Scleroderma Patient. ⁶²	Beaty KL...Rogo EJ	34376545	2021
47	Biventricular affection in CREST syndrome. ⁶²	Brugger M...Ibrahim T	33963836	2021
48	The burden of systemic sclerosis in Switzerland - the Swiss systemic sclerosis EUSTAR cohort. ⁶²	Hernandez J...The Eustar Collaborators	34283895	2021
49	Primary Localized Cutaneous Nodular Amyloidosis and Limited Cutaneous Systemic Sclerosis: Additional Cases with Dermatoscopic and Histopathological Correlation of Amyloid Deposition. ⁶²	Atzori L...Rongioletti F	34287266	2021
50	Evaluation of endothelial dysfunction and clinical events in patients with early-stage vasculopathy in limited systemic sclerosis. ⁶²	Jud P...Hafner F	34323684	2021

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Genes for Limited Scleroderma

Genes related to Limited Scleroderma (6 elite genes):

(show top 50) (show all 51)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	CCR6	C-C Motif Chemokine Receptor 6	Protein Coding	31.71	Susceptibility factor ⁵⁸ DISEASES inferred ¹⁴ ¹⁴	23983073
2	IRF5	Interferon Regulatory Factor 5	Protein Coding	29.82	Susceptibility factor ⁵⁸ DISEASES inferred ¹⁴	23372721
3	HLA-DRB1	Major Histocompatibility Complex, Class II, DR Beta 1	Protein Coding	29.59	Susceptibility factor ⁵⁸ DISEASES inferred ¹⁴
4	CCN2	Cellular Communication Network Factor 2	Protein Coding	29.36	Susceptibility factor ⁵⁸ DISEASES inferred ¹⁴
5	KIAA0319L	KIAA0319 Like	Protein Coding	28.4	Susceptibility factor ⁵⁸ DISEASES inferred ¹⁴	23740937
6	CAV1	Caveolin 1	Protein Coding	27.88	Susceptibility factor ⁵⁸ DISEASES inferred ¹⁴	22402147
7	CENPB	Centromere Protein B	Protein Coding	7.2	DISEASES inferred ¹⁴
8	TOP1	DNA Topoisomerase I	Protein Coding	6.93	DISEASES inferred ¹⁴
9	SNRNP70	Small Nuclear Ribonucleoprotein U1 Subunit 70	Protein Coding	6.64	DISEASES inferred ¹⁴
10	EXOSC10	Exosome Component 10	Protein Coding	6.52	DISEASES inferred ¹⁴
11	CENPA	Centromere Protein A	Protein Coding	6.36	DISEASES inferred ¹⁴
12	CENPC	Centromere Protein C	Protein Coding	6.2	DISEASES inferred ¹⁴
13	CENPS	Centromere Protein S	Protein Coding	5.97	DISEASES inferred ¹⁴
14	FBL	Fibrillarin	Protein Coding	5.68	DISEASES inferred ¹⁴
15	TSSK1B	Testis Specific Serine Kinase 1B	Protein Coding	5.65	DISEASES inferred ¹⁴
16	TRIM21	Tripartite Motif Containing 21	Protein Coding	5.65	DISEASES inferred ¹⁴
17	BANK1	B Cell Scaffold Protein With Ankyrin Repeats 1	Protein Coding	5.38	DISEASES inferred ¹⁴
18	EDN1	Endothelin 1	Protein Coding	5.28	DISEASES inferred ¹⁴
19	KRTAP17-1	Keratin Associated Protein 17-1	Protein Coding	5.19	DISEASES inferred ¹⁴
20	EDNRA	Endothelin Receptor Type A	Protein Coding	5.17	DISEASES inferred ¹⁴
21	RNPC3	RNA Binding Region (RNP1, RRM) Containing 3	Protein Coding	5.15	DISEASES inferred ¹⁴
22	ACE	Angiotensin I Converting Enzyme	Protein Coding	5.14	DISEASES inferred ¹⁴
23	UBTF	Upstream Binding Transcription Factor	Protein Coding	5.13	DISEASES inferred ¹⁴
24	CRP	C-Reactive Protein	Protein Coding	5	DISEASES inferred ¹⁴
25	SSB	Small RNA Binding Exonuclease Protection Factor La	Protein Coding	4.96	DISEASES inferred ¹⁴
26	SCRT2	Scratch Family Transcriptional Repressor 2	Protein Coding	4.94	DISEASES inferred ¹⁴
27	PXK	PX Domain Containing Serine/Threonine Kinase Like	Protein Coding	4.86	DISEASES inferred ¹⁴
28	PDE5A	Phosphodiesterase 5A	Protein Coding	4.85	DISEASES inferred ¹⁴
29	IFI16	Interferon Gamma Inducible Protein 16	Protein Coding	4.83	DISEASES inferred ¹⁴
30	RNU11	RNA, U11 Small Nuclear	RNA Gene	4.75	DISEASES inferred ¹⁴
31	IL6	Interleukin 6	Protein Coding	4.7	DISEASES inferred ¹⁴
32	TM2D1	TM2 Domain Containing 1	Protein Coding	4.65	DISEASES inferred ¹⁴
33	IFI44	Interferon Induced Protein 44	Protein Coding	4.64	DISEASES inferred ¹⁴
34	WDR11	WD Repeat Domain 11	Protein Coding	4.63	DISEASES inferred ¹⁴
35	NUP210	Nucleoporin 210	Protein Coding	4.57	DISEASES inferred ¹⁴
36	PRTN3	Proteinase 3	Protein Coding	4.56	DISEASES inferred ¹⁴
37	FAM167A	Family With Sequence Similarity 167 Member A	Protein Coding	4.56	DISEASES inferred ¹⁴
38	OXCT1	3-Oxoacid CoA-Transferase 1	Protein Coding	4.53	DISEASES inferred ¹⁴
39	SYS1	SYS1 Golgi Trafficking Protein	Protein Coding	4.53	DISEASES inferred ¹⁴
40	RNU12-2P	RNA, U12 Small Nuclear 2, Pseudogene	Pseudogene	4.51	DISEASES inferred ¹⁴
41	RO60	Ro60, Y RNA Binding Protein	Protein Coding	4.51	DISEASES inferred ¹⁴
42	STAT4	Signal Transducer And Activator Of Transcription 4	Protein Coding	4.51	DISEASES inferred ¹⁴
43	HLA-DQA1	Major Histocompatibility Complex, Class II, DQ Alpha 1	Protein Coding	4.47	DISEASES inferred ¹⁴
44	CD4	CD4 Molecule	Protein Coding	4.44	DISEASES inferred ¹⁴
45	EDNRB	Endothelin Receptor Type B	Protein Coding	4.42	DISEASES inferred ¹⁴
46	COL1A2	Collagen Type I Alpha 2 Chain	Protein Coding	4.39	DISEASES inferred ¹⁴
47	MIR3148	MicroRNA 3148	RNA Gene	4.38	DISEASES inferred ¹⁴
48	LSS	Lanosterol Synthase	Protein Coding	4.35	DISEASES inferred ¹⁴
49	MMP1	Matrix Metallopeptidase 1	Protein Coding	4.33	DISEASES inferred ¹⁴
50	TNF	Tumor Necrosis Factor	Protein Coding	4.31	DISEASES inferred ¹⁴

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Variations for Limited Scleroderma

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Expression for Limited Scleroderma

Search GEO for disease gene expression data for Limited Scleroderma.

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Pathways for Limited Scleroderma

Pathways related to Limited Scleroderma according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Ebola virus infection in host ⁷⁴	11.24	TOP1 HLA-DRB1 CAV1
2	Genes associated with the development of rheumatoid arthritis ⁷⁴	10.05	IRF5 HLA-DRB1 CCR6

Sources

GO Terms for Limited Scleroderma

Cellular components related to Limited Scleroderma according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	chromosome, centromeric region	GO:0000775	9.63	CENPS CENPC CENPB CENPA
2	pericentric heterochromatin	GO:0005721	9.43	CENPC CENPB CENPA
3	condensed chromosome, centromeric region	GO:0000779	9.1	CENPC CENPB CENPA

Biological processes related to Limited Scleroderma according to GeneCards Suite gene sharing:

(show all 18)

#	Name	GO ID	Score	Top Affiliating Genes
1	artery smooth muscle contraction	GO:0014824	9.88	EDNRA EDN1
2	renal sodium ion absorption	GO:0070294	9.87	EDNRA EDN1
3	pharyngeal arch artery morphogenesis	GO:0061626	9.85	EDNRA EDN1
4	endothelin receptor signaling pathway	GO:0086100	9.84	EDNRA EDN1
5	positive regulation of cation channel activity	GO:2001259	9.83	EDNRA EDN1
6	axonogenesis involved in innervation	GO:0060385	9.81	EDNRA EDN1
7	regulation of glucose transmembrane transport	GO:0010827	9.8	EDNRA EDN1
8	cardiac neural crest cell migration involved in outflow tract morphogenesis	GO:0003253	9.78	EDN1 EDNRA
9	noradrenergic neuron differentiation	GO:0003357	9.76	EDN1 EDNRA
10	cellular response to luteinizing hormone stimulus	GO:0071373	9.73	EDNRA EDN1
11	sympathetic neuron axon guidance	GO:0097492	9.71	EDNRA EDN1
12	neural crest cell fate commitment	GO:0014034	9.67	EDNRA EDN1
13	endothelin receptor signaling pathway involved in heart process	GO:0086101	9.62	EDNRA EDN1
14	regulation of biological quality	GO:0065008	9.56	EDNRA EDN1
15	meiotic cell cycle process involved in oocyte maturation	GO:1903537	9.56	EDNRA EDN1
16	cellular response to human chorionic gonadotropin stimulus	GO:0044751	9.46	EDNRA EDN1
17	vasoconstriction	GO:0042310	9.43	EDNRA EDN1 CAV1
18	kinetochore assembly	GO:0051382	9.1	CENPS CENPC CENPA

Molecular functions related to Limited Scleroderma according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	centromeric DNA binding	GO:0019237	8.92	CENPC CENPB

Sources

Sources for Limited Scleroderma

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: LMT001 MIFTS: 50	Limited Scleroderma Categories: Bone diseases, Immune diseases, Nephrological diseases, Rare diseases, Respiratory diseases, Skin diseases	Data Licensing For inquiries, contact: [email protected]
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